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Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma
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Multiple myeloma (MM) is the third most common hematological malignancy, after Non-Hodgkin Lymphoma and Leukemia. MM is generally preceded by Monoclonal Gammopathy of Undetermined Significance (MGUS) [1], and epidemiological studies have identified older age, male gender, family history, and MGUS as risk factors for developing MM [2]. The somatic mutational landscape of sporadic MM has been increasingly investigated, aiming to identify recurrent genetic events involved in myelomagenesis. Whole exome and whole genome sequencing studies have shown that MM is a genetically heterogeneous disease that evolves through accumulation of both clonal and subclonal driver mutations [3] and identified recurrently somatically mutated genes, including KRAS, NRAS, FAM46C, TP53, DIS3, BRAF, TRAF3, CYLD, RB1 and PRDM1 [3,4,5].
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PERTESI, Maroulio, et al. Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma. Leukemia. 2019. Vol. 33, num. 9, pags. 2324-2330. ISSN 0887-6924. [consulted: 1 of June of 2026]. Available at: https://hdl.handle.net/2445/171340